A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia

PURPOSE: We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history. Both mutations in this patient have not been previously de...

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Detalles Bibliográficos
Autores principales: Fan, Kenneth C., Patel, Nimesh A., Yannuzzi, Nicolas A., Prakhunhungsit, Supalert, Negron, Catherin I., Basora, Elisa, Colin, Andrew A., Tekin, Mustafa, Berrocal, Audina M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6579934/
https://www.ncbi.nlm.nih.gov/pubmed/31431935
http://dx.doi.org/10.1016/j.ajoc.2019.100486

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